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rs797045863

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045863(-;-)
Make rs797045863(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position2672652
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs797045863
dbSNP (classic)rs797045863
ClinGenrs797045863
ebirs797045863
HLIrs797045863
Exacrs797045863
Gnomadrs797045863
Varsomers797045863
LitVarrs797045863
Maprs797045863
PheGenIrs797045863
Biobankrs797045863
1000 genomesrs797045863
hgdprs797045863
ensemblrs797045863
geneviewrs797045863
scholarrs797045863
googlers797045863
pharmgkbrs797045863
gwascentralrs797045863
openSNPrs797045863
23andMers797045863
SNPshotrs797045863
SNPdbers797045863
MSV3drs797045863
GWAS Ctlgrs797045863
Max Magnitude0
ClinVar
Risk rs797045863(-;-)
Alt rs797045863(-;-)
Reference Rs797045863(T;T)
Significance Probable-Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2575946delT
CLNSRC
CLNACC RCV000193791.1,